https://m2.mtmt.hu/ eng 2026-10-23 01:37 JournalArticle 34133723 VALIDATED true Export Date: 30 March 2025; CODEN: CRNGD 0 false 2026-10-16T09:58:14.762+0000 2024-12-06T18:05:31.499+0000 2023-09-11T06:04:21.421+0000 true 10039043 Milánkovics Róbert /api/admin/10039043 Admin true 10039043 2026-08-11T08:30:29.568+0000 2024-12-06T18:05:31.835+0000 true 10039043 Milánkovics Róbert /api/admin/10039043 Admin true 10039043 true false true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle true 10000359 Study Group true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle /api/subtype/10000359 Sokszerzős vagy csoportos szerzőségű szakcikk SubType 104 true 10000359 true 1 /api/category/1 Category true 1 Giaccherini, Matteo A scan of all coding region variants of the human genome, identifies 13q12.2-rs9579139 and 15q24.1-rs2277598 as novel risk loci for pancreatic ductal adenocarcinoma true true /api/journal/920 REVIEWED true false 920 false 920 true 0143-3334 1460-2180 Journal FOREIGN 44 8-9 642 649 642 8 2023 Coding sequence variants comprise a small fraction of the germline genetic variability of the human genome. However, they often cause deleterious change in protein function and are therefore associated with pathogenic phenotypes. To identify novel pancreatic ductal adenocarcinoma (PDAC) risk loci, we carried out a complete scan of all common missense and synonymous SNPs and analysed them in a case control study comprising four different populations, for a total of 14,538 PDAC cases and 190,657 controls. We observed a statistically significant association between 13q12.2-rs9581957-T and PDAC risk (P=2.46x10 -9), that is in linkage disequilibrium (LD) with a deleterious missense variant (rs9579139) of the URAD gene. Recent findings suggest that this gene is active in peroxisomes. Considering that peroxisomes have a key role as molecular scavengers, especially in eliminating reactive oxygen species, a malfunctioning URAD protein might expose the cell to a higher load of potentially DNA damaging molecules and therefore increase PDAC risk. The association was observed in individuals of European and Asian ethnicity. We also observed the association of the missense variant 15q24.1-rs2277598-T, that belongs to BBS4 gene, with increased PDAC risk (P=1.53x10 -6). rs2277598 is associated with body mass index and is in LD with diabetes susceptibility loci. In conclusion, we identified two missense variants associated with the risk of developing PDAC independently from the ethnicity highlighting the importance of conducting reanalysis of GWAS studies in light of functional data. true 2023 true true true false true false GREEN 2026-10-16 true http://publicatio.bibl.u-szeged.hu/29093 8 0 8 3 0 8 8 8 8 8 8 3 3 3 5 0 8 3 8 3 0 12 12 Folyóiratcikk Journal Article 24 8 Könyvrészlet Chapter in Book 25 0 Könyv Book 23 0 Egyéb konferenciaközlemény Conference paper 31 0 Egyéb konferenciakötet Conference proceedings 32 0 Oltalmi formák Protection forms 26 0 Disszertáció Thesis 28 0 Egyéb Miscellaneous 29 0 Alkotás Achievement 22 0 Kutatási adat Research data 33 0 Folyóiratcikk Journal Article 24 0 0 0 Könyvrészlet Chapter in Book 25 0 0 0 Könyv Book 23 0 0 0 Egyéb konferenciaközlemény Conference paper 31 0 0 0 Egyéb konferenciakötet Conference proceedings 32 0 0 0 Oltalmi formák Protection forms 26 0 0 0 Disszertáció Thesis 28 0 0 0 Egyéb 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Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <img title="Idézőközlemény" style="float: left" src="/frontend/resources/grid/publication-citation-icon.png"> <div class="autype autype0"> <span class="author-name" >Giaccherini Matteo </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10078474"><a href="/gui2/?type=authors&mode=browse&sel=10078474" target="_blank">Hussein Tamás (<span class="authorship-author-name">Hussein Tamás</span> <span class="authorAux-mtmt"> Orvostudomány</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Központi Szervezeti Egységek (beleértve az Egyéb Szervezeti Egységeket)">KSZE</span>/Centre for Translational Medicine; <span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/<span title="Cardiovascular Center">Cardiovascular Center</span>/Department of Pancreatic Diseases</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10002629"><a href="/gui2/?type=authors&mode=browse&sel=10002629" target="_blank">Hegyi Péter (<span class="authorship-author-name">Hegyi Péter</span> <span class="authorAux-mtmt"> Gasztroenterológia</span>) </a> </span> <span class="author-affil"><span title="University of Pécs">UP</span>/<span title="Medical School">UPMS</span>/Institute for Translational Medicine; <span title="Semmelweis University">SU</span>/<span title="Központi Szervezeti Egységek (beleértve az Egyéb Szervezeti Egységeket)">KSZE</span>/Centre for Translational Medicine; <span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/<span title="Cardiovascular Center">Cardiovascular Center</span>/Department of Pancreatic Diseases</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10084215"><a href="/gui2/?type=authors&mode=browse&sel=10084215" target="_blank">Bunduc Stefania (<span class="authorship-author-name">Bunduc Stefania</span> <span class="authorAux-mtmt"> Gastroenterology</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Központi Szervezeti Egységek (beleértve az Egyéb Szervezeti Egységeket)">KSZE</span>/Centre for Translational Medicine</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10057649"><a href="/gui2/?type=authors&mode=browse&sel=10057649" target="_blank">Szentesi Andrea (<span class="authorship-author-name">Szentesi Andrea Ildikó</span> <span class="authorAux-mtmt"> Pankreatológia</span>) </a> </span> <span class="author-affil"><span title="University of Szeged">SZTE</span>/<span title="Albert Szent-Györgyi Medical School">ASZMS</span>/Department of Internal Medicine; <span title="University of Pécs">UP</span>/<span title="Medical School">UPMS</span>/Institute for Translational Medicine</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10064235"><a href="/gui2/?type=authors&mode=browse&sel=10064235" target="_blank">Erőss Bálint (<span class="authorship-author-name">Erőss Bálint Mihály</span> <span class="authorAux-mtmt"> Gasztroenterológia</span>) </a> </span> <span class="author-affil"><span title="University of Pécs">UP</span>/<span title="Medical School">UPMS</span>/Institute for Translational Medicine; <span title="Semmelweis University">SU</span>/<span title="Központi Szervezeti Egységek (beleértve az Egyéb Szervezeti Egységeket)">KSZE</span>/Centre for Translational Medicine; <span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/<span title="Cardiovascular Center">Cardiovascular Center</span>/Department of Pancreatic Diseases</span> ;&nbsp;&nbsp;&nbsp; et al. (61) </div> <div><a target="_blank" href="/api/publication/34133723?labelLang=eng">All authors</a></div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;34133723" target="_blank">A scan of all coding region variants of the human genome, identifies 13q12.2-rs9579139 and 15q24.1-rs2277598 as novel risk loci for pancreatic ductal adenocarcinoma</a></div> <div> <span class="journal-title">CARCINOGENESIS</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/0143-3334">0143-3334</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1460-2180">1460-2180</a>)</span>: <span class="journal-volume">44</span> <span class="journal-issue">8-9</span> <span class="page"> pp 642-649 </span> <span class="year">(2023)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Language: English | </span> <span class="identifiers"> <span class="id identifier oa_PAY" title=" Pay "> <a style="color:blue" title="10.1093/carcin/bgad056" target="_blank" href="https://doi.org/10.1093/carcin/bgad056"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="001068185500001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/001068185500001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85178662996" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85178662996"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="37670727" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=37670727&dopt=Abstract"> PubMed </a> </span> <span class="id identifier oa_GREEN" title=" Green "> <a style="color:blue" title="29093" target="_blank" href="http://publicatio.bibl.u-szeged.hu/29093"> SZTE Publicatio </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Journal subject: Scopus - Medicine (miscellaneous)&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q1</div> <div class="journal-subject">Journal subject: Scopus - Cancer Research&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q2</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="" class="citingPub-count">Citing papers: 8</span> | Independent citation: 3 | Self citation: 5 | Unknown citation: 0 | Number of citations in WoS: 8 | Number of citations in Scopus:&nbsp;8 | WoS/Scopus assigned:&nbsp;8 | Number of citations with DOI:&nbsp;8 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;34133723&sort=publishedYear,desc&sort=title"> Number of cited publications: 12 </a> </div> <div class="mtid"><span class="long-pub-mtid">Publication: 34133723</span> | <span class="status-data status-VALIDATED"> Validated </span> Core Citing | <span class="type-subtype">Journal Article ( Study Group ) </span> | <span class="pub-category">Scientific</span> | <span class="publication-sourceOfData">PubMed XML</span> </div> <div class="lastModified">Last Modified: 2024.12.06. 19:05 Róbert Milánkovics (PTE ÁOK admin 4) </div> <pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Comments</u>: Export Date: 30 March 2025; CODEN: CRNGD</pre> </div></div>